9336. PCR. Genetics. Lactose intolerance (13910 T>C, blood)

Genetic testing of a venous blood sample for the 13910 T>C polymorphism, which is associated with primary (hereditary) lactose intolerance – a condition in which lactase enzyme activity decreases with age, reducing the body’s ability to digest the milk sugar lactose.

The test can identify a genetic predisposition to hypolactasia and help predict its development.

Lactose intolerance is a congenital or acquired inability to digest lactose due to reduced or absent lactase activity in the small intestine. It is most often genetic (primary) and develops gradually after the age of 2-5 years.

The 13910 T>C genetic marker in the regulatory region of the LCT (lactase) gene determines the persistence of lactase activity:

• C/C – high risk of developing lactose intolerance;
• T/C – intermediate lactase activity;
• T/T – preserved lactase activity (normal).

The test helps distinguish the primary (genetic) form from secondary hypolactasia, which may occur due to:

• intestinal infections;
• celiac disease;
• inflammatory bowel diseases, such as Crohn’s disease and IBS.

• Children aged 1.5 years and older with symptoms such as bloating, abdominal pain, or diarrhea.
• Adults with signs of poor milk tolerance that become more pronounced with age.
• Individuals with suspected primary hypolactasia or a relevant family history.
• Patients with IBS, celiac disease, or Crohn’s disease – to help assess possible secondary hypolactasia.
• To support the decision to follow a lactose-free diet.
• As an additional test in osteopenia or osteoporosis, particularly when inadequate calcium absorption is suspected.

• Venous blood

In order to exclude factors that may affect the test results, we recommend to follow the preparation rules: